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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-66563197-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66563197&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 66563197,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016951.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "NM_016951.4",
"protein_id": "NP_058647.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 152,
"cds_start": 313,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264001.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016951.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000264001.9",
"protein_id": "ENSP00000264001.5",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 152,
"cds_start": 313,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016951.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264001.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"transcript": "ENST00000351137.8",
"protein_id": "ENSP00000264003.4",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 99,
"cds_start": 154,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351137.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "c.237+4849A>G",
"hgvs_p": null,
"transcript": "ENST00000616804.5",
"protein_id": "ENSP00000479319.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616804.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "c.238-2689A>G",
"hgvs_p": null,
"transcript": "ENST00000345436.8",
"protein_id": "ENSP00000290771.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345436.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "c.79-2689A>G",
"hgvs_p": null,
"transcript": "ENST00000362093.4",
"protein_id": "ENSP00000355417.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362093.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "NM_001040138.3",
"protein_id": "NP_001035228.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 113,
"cds_start": 313,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040138.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000417030.2",
"protein_id": "ENSP00000416678.2",
"transcript_support_level": 4,
"aa_start": 105,
"aa_end": null,
"aa_length": 113,
"cds_start": 313,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417030.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"transcript": "NM_181640.2",
"protein_id": "NP_857591.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 99,
"cds_start": 154,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181640.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"transcript": "NM_001204098.2",
"protein_id": "NP_001191027.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 92,
"cds_start": 154,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204098.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"transcript": "ENST00000615332.5",
"protein_id": "ENSP00000484781.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 92,
"cds_start": 154,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615332.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Thr24Ala",
"transcript": "ENST00000529718.1",
"protein_id": "ENSP00000433503.1",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 64,
"cds_start": 70,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529718.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"transcript": "ENST00000532838.1",
"protein_id": "ENSP00000433857.1",
"transcript_support_level": 4,
"aa_start": 52,
"aa_end": null,
"aa_length": 60,
"cds_start": 154,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "c.237+4849A>G",
"hgvs_p": null,
"transcript": "NM_001204099.2",
"protein_id": "NP_001191028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204099.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "c.238-2689A>G",
"hgvs_p": null,
"transcript": "NM_181641.2",
"protein_id": "NP_857592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181641.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "c.78+10404A>G",
"hgvs_p": null,
"transcript": "NM_001202509.2",
"protein_id": "NP_001189438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202509.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "c.78+10404A>G",
"hgvs_p": null,
"transcript": "ENST00000527729.5",
"protein_id": "ENSP00000433998.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527729.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "c.79-2689A>G",
"hgvs_p": null,
"transcript": "NM_016326.3",
"protein_id": "NP_057410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016326.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "n.*102A>G",
"hgvs_p": null,
"transcript": "ENST00000527845.1",
"protein_id": "ENSP00000435007.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527845.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "n.*102A>G",
"hgvs_p": null,
"transcript": "ENST00000534692.1",
"protein_id": "ENSP00000431270.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "n.161A>G",
"hgvs_p": null,
"transcript": "ENST00000563092.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000563092.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF-CMTM1",
"gene_hgnc_id": 39977,
"hgvs_c": "n.*102A>G",
"hgvs_p": null,
"transcript": "ENST00000527845.1",
"protein_id": "ENSP00000435007.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527845.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"hgvs_c": "n.*102A>G",
"hgvs_p": null,
"transcript": "ENST00000534692.1",
"protein_id": "ENSP00000431270.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534692.1"
}
],
"gene_symbol": "CKLF",
"gene_hgnc_id": 13253,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.047177672386169434,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0718,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.2,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016951.4",
"gene_symbol": "CKLF",
"hgnc_id": 13253,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001204098.2",
"gene_symbol": "CKLF-CMTM1",
"hgnc_id": 39977,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}